A benign congenital myopathy in an inbred Samaritan family.

We describe a novel form of myopathy in a mother and her two daughters from an inbred Samaritan family. The patients displayed severe neonatal hypotonia, lethargy and dysmorphic features. Motor milestones were delayed; however, the hypotonia and muscle weakness gradually improved during the first 2 years of life and independent walking was achieved by 18 months. The mother at the age of 23 years shows myopathic facies and minimal proximal weakness. Her intelligence is normal. Her muscle biopsy revealed central nuclei and disruption of the intermyofibrillary network with moth eaten and spiral fibers. Mutations in SMN, MTM1 and the myotonic dystrophy genes were excluded. We suggest this is a new benign form of congenital myopathy. Inheritance is probably autosomal recessive.     

A Feasibility Study of High-Entropy Alloy Coating Deposition by Detonation Spraying Combined with Laser Melting

In this work, a new two-stage approach to the deposition of high-entropy alloy coatings is proposed. At the first stage, a composite precursor coating is formed by detonation spraying of the metal powder mixtures. At the second stage, the precursor coating is re-melted by a laser, and the formation of multi-component solid solution phases can be expected upon solidification. The feasibility of the proposed approach was validated using three different mixtures of Fe, Ni, Cu, Co and Al powders. It was shown that detonation spraying allows forming composite coatings with a uniform distribution of the lamellae of different metals. The results of the structural analysis of the laser-treated coatings suggest that complete alloying occurred in the melt and face-centered cubic solid solutions formed in the coatings upon cooling.     

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: clinical description and genetics

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (two-third) of the vagina. It may be isolated (type I) or associated with other malformations (type II or MURCS association). These latter involve the upper urinary tract, the skeleton and, to a lesser extent, the otologic sphere or the heart. The incidence of MRKH syndrome has been estimated as 1 in 4500 women. The prime feature is a primary amenorrhea in women presenting otherwise with normal development of secondary sexual characteristics and normal external genitalia. However, the vagina is reduced to a vaginal dimple with variable depth. The ovaries are normal and functional as well as the endocrine status. Karyotype is 46,XX, with no visible chromosome modification. The phenotypic manifestations of MRKH syndrome overlap with various other syndromes or malformations and thus require accurate delineation as well as differential diagnosis. For a long time, the syndrome has been considered as a sporadic anomaly, but increasing familial cases now support the hypothesis of a genetic cause currently under investigation. The syndrome appears to be transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity.     

Gene Expression Profile Provides Novel Insights of Fasting-Refeeding Response in Zebrafish Skeletal Muscle

Recently, fasting has been spotlighted from a healthcare perspective. However, the de-tailed biological mechanisms and significance by which the effects of fasting confer health benefits are not yet clear. Due to certain advantages of the zebrafish as a vertebrate model, it is widely utilized in biological studies. However, the biological responses to nutrient metabolism within zebrafish skeletal muscles have not yet been amply reported. Therefore, we aimed to reveal a gene expression profile in zebrafish skeletal muscles in response to fasting-refeeding. Accordingly, mRNA-sequencing and bioinformatics analysis were performed to examine comprehensive gene expression changes in skeletal muscle tissues during fasting-refeeding. Our results produced a novel set of nutrition-related genes under a fasting-refeeding protocol. Moreover, we found that five genes were dramatically upregulated in each fasting (for 24 h) and refeeding (after 3 h), exhibiting a rapid response to the provided conditional changes. The assessment of the gene length revealed that the gene set whose expression was elevated only after 3 h of refeeding had a shorter length, suggesting that nutrition-related gene function is associated with gene length. Taken together, our results from the bioinformatics analyses provide new insights into biological mechanisms induced by fasting-refeeding conditions within zebrafish skeletal muscle.     

Prediction of Compressive Strength of Sustainable Foam Concrete Using Individual and Ensemble Machine Learning Approaches

The entraining and distribution of air voids in the concrete matrix is a complex process that makes the mechanical properties of lightweight foamed concrete (LFC) highly unpredictable. To study the complex nature of aerated concrete, a reliable and robust prediction model is required, employing different machine learning (ML) techniques. This study aims to predict the compressive strength of LFC by using a support vector machine (SVM) as an individual learner along with bagging, boosting, and random forest (RF) as a modified ensemble learner. For that purpose, a database of 191 data points was collected from published literature, where the mix design ingredients, i.e., cement content, sand content, water to cement ratio, and foam volume, were chosen to predict the compressive strength of LFC. The 10-K fold cross-validation method and different statistical error and regression tools, i.e., mean absolute error (MAE), root means square error (RMSE), and coefficient of determinant (R²), were used to evaluate the performance of the developed ML models. The modified ensemble learner (RF) outperforms all models by yielding a strong correlation of R² = 0.96 along with the lowest statistical error values of MAE = 1.84 MPa and RMSE = 2.52 MPa. Overall, the result suggests that the ensemble learners would significantly enhance the performance and robustness of ML models.     

产后阴道炎应用妇肤康喷雾剂治疗效果观察

目的：探讨妇肤康喷雾剂在产后阴道炎治疗中的应用效果。方法选择2012年7月至2013年6月该院80例产后阴道炎患者作为研究对象。对照组患者采用甲硝唑栓治疗,试验组患者采用妇肤康喷雾剂治疗。比较两组患者在治疗效果和不良反应方面的差异性。结果与对照组比较,试验组总有效率明显较高,不良反应发生率明显较低,组间比较差异有统计学意义（P＜0．05）。结论妇肤康喷雾剂在产后阴道炎治疗中具有良好的应用效果,疗效确切、不良反应小,值得临床推广应用。